Our Team

Research Team

Priya Kishnani

Priya Kishnani, MD, MBBS
Medical Director
Priya Kishnani, MD, MBBS, is the Chen Family Professor of Pediatrics, chief of the Division of Medical Genetics at Duke University Medical Center as well as medical director of the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Kishnani moved to the United States in 1991, after completing a residency in pediatrics in Mumbai, India. She went on to do a second residency in pediatrics as well as a fellowship in genetics and metabolism at Duke University Medical Center. Shortly after, she joined the faculty at Duke University. Dr. Kishnani is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics. She also serves as the director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program, and Metabolic Clinic at Duke University Medical Center.

Dr. Kishnani has worked in translational research throughout her career. She has worked to apply basic scientific discoveries to clinical trials and has pioneered the approval of new therapeutics. Dr. Kishnani’s work has crossed over into the field of newborn screening at many points in her research career but specifically through her work in the care and treatment of individuals with lysosomal storage disorders (LSDs), glycogen storage diseases (GSDs), and other inborn errors of metabolism. She has served as a principle investigator on several clinical trials with a primary focus on the clinical implementation and development of new therapeutic interventions, specifically with a focus on enzyme replacement therapy and small molecules. She remains passionate about the care, treatment and natural history of individuals with LSDs.

Dr. Kishnani has been widely published in journals, textbooks and scientific reviews in the areas of treatment strategies, and examining long-term complications in various LSDs. She dedicated over 16 years of her career to developing a treatment for Pompe and has been recognized as an advocate for awareness of Pompe disease as well as many other rare diseases.

Stephanie Austin

Stephanie Austin, MS, MA
Certified Genetic Counselor
Stephanie Austin, MS, MA, is a certified genetic counselor with a dual degree in genetic counseling and educational psychology from the University of Minnesota. She works with Priya Kishnani, MD and the glycogen storage disease team at Duke University Medical Center as a senior research project leader. Stephanie spends the majority of her time coordinating glycogen storage disease (GSD) and lysosomal storage disease clinical research for the team. She works closely with collaborators at Duke, as well as others around the United States and internationally, to identify ways to improve the lives of people with glycogen storage disease. The Duke team has a dedication to research related to glycogen storage disease as well as lysosomal storage disease. Stephanie’s research interests include characterizing the new natural history of Pompe disease and investigating new treatments for GSD III.

Baodong Sun

Baodong Sun, PhD
Baodong Sun, PhD, is an associate professor of pediatrics in the Division of Medical Genetics with expertise in gene therapy and enzyme replacement therapy for human genetic disorders. He earned his bachelor's and master's degrees in molecular biology and biochemistry, and PhD degree in cell biology from China Medical University. Dr. Sun came to the US in early 1997 to pursue his postgraduate training in medical research at Tulane University School of Medicine, under the supervision of Professor Andrew Schally, a nobel laureate in medicine. He joined the Duke Division of Medical Genetics in 2001 with an interest in finding curative treatment for human glycogen storage disease (GSD) and other inherited metabolic disorders. His current research focuses on the identification of novel therapeutic targets and the development of effective treatment approaches for GSD II (Pompe disease), III (Cori disease), and GSD IV (Andersen disease) in animal disease models.

Dwight Koeberl

Dwight Koeberl, MD, PhD
Dwight Koeberl, MD, PhD, attended Carleton College, and received his MD and PhD degrees from the Mayo School of Health Sciences. He then moved to the University of California San Francisco where he completed his pediatrics residency. He completed fellowship training in clinical and biochemical genetics at the University of Washington, before joining the Division of Medical Genetics in the Department of Pediatrics at Duke University in 1999. He serves as the medical director for the Pediatrics Biochemical Genetics Laboratory and sees patients in the Metabolic Clinic. At Duke, his research has primarily focused on the development of new therapy for inherited metabolic disorders, especially for the glycogen storage diseases. He is currently developing drug and gene therapy for glycogen storage disease types I and type II, the latter is known as Pompe disease. He was recruited to Duke by Dr. Y.T. Chen, who developed the enzyme replacement therapy that has become the standard of care for Pompe disease. In 2018, he will lead a clinical trial of gene therapy for Pompe disease. His laboratory is developing gene editing with CRISPR for the glycogen storage diseases.

Duke logo

Elizabeth Brooks, MS, DVM
Elizabeth Brooks, MS, DVM, received a master’s degree in cellular and molecular biology from Utah State University and doctor of veterinary medicine degree from Washington State University. She has worked in the Division of Medical Genetics since 2011, performing both clinical care and research with animal models for glycogen storage diseases type I, II, III and IV.

Jennifer Cohen

Jennifer Cohen, MD
Jennifer Cohen, MD is an assistant professor of pediatrics in the Division of Medical Genetics. She attended Yale College and then received her MD from the Icahn School of Medicine at Mount Sinai in NYC. She completed a combined residency program at the Children’s Hospital of Philadelphia in pediatrics and medical genetics, before joining the faculty at Duke in 2019. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. She is actively involved in the Pompe disease gene therapy trials at Duke. Her long-time research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants.

Karl-Dimiter Bissig

Karl-Dimiter (Dimi) Bissig, MD, PhD
Dr. Bissig is instructor at the YT and Alice Chen Pediatrics Genetics and Genomics Center. Dr. Bissig received his MD and PhD from the University of Bern School of Medicine & Natural Science, Bern, Switzerland. He completed residency in internal medicine at the University Hospital Bern before moving to the Salk Institute for Biological Studies, La Jolla, California. During his postdoctoral training at The Salk he developed a novel human liver chimeric mouse model and demonstrated the utility of humanized mice for several applications. After establishing his independent research lab at Baylor College of Medicine, Houston, Texas, he showed that humanized mice could be used to model inborn errors of metabolism. His laboratory developed the first xenograft model for metabolic liver disease and introduced the next generation of human liver chimeric mice (PIRF mouse), which is particularly useful for prediction of human drug metabolism. More recently, he introduced a novel therapeutic concept called metabolic pathway reprogramming using CRISPR/Cas9 somatic gene editing and developed new methods to generate liver specific knockout models using CRISPR/Cas9 genome engineering. In 2019 he moved to Duke University because of it’s strong translational focus and is further developing new therapeutic approaches for inborn errors of metabolism. Dr. Bissig has an excellent track record of interdisciplinary collaborations also with the pharmaceutical industry. He holds a patent portfolio and is founder of a local startup company.  

Areeg El-Gharbawy

Areeg El-Gharbawy, MD, MBBCh, MS
Areeg El-Gharbawy MD, MBBCh, MS is an associate professor of pediatrics in the Division of Medical Genetics. She joined the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center faculty in June 2019, in pursuit of a career in clinical/translational research. After obtaining her medical degree, completing residency training, and a doctorate of science degree in internal medicine at Cairo University, Egypt, she moved to the United States and trained in multiple specialties leading to board certification in internal medicine, endocrinology, diabetes, nutrition, metabolism, and clinical and clinical biochemical genetics. Her last clinical biochemical genetics fellowship was at Duke (2009-2012); where she received the Emmanuel Shapira award for best publication in the journal of Molecular Genetics and Metabolism journal for her work on expanding the vascular phenotype of Pompe Disease with Priya Kishnani. At the end of her fellowship training, she moved to a faculty position at Children’s Hospital of Pittsburgh, University of Pittsburgh from 2012-2019, where she initiated and led a successful glycogen storage disease (GSD) program that emphasized clinical optimization of patient care through glucose monitoring and the education of patient/ parents to be an integral part of the care team. This program acquired national recognition due to patient satisfaction and became a referral center for patients with different types of GSD (hepatic and muscle forms). In Pittsburgh, Dr. El-Gharbawy, also was co-investigator on multiple clinical trials including fatty acid oxidation disorders, organic aciduria, lysosomal storage disease, mitochondrial disorders, PKU and others. During a stint opportunity in the Vockley lab, she hypothesized, initiated and conducted a project on human cell lines; that focused on targeting and stabilizing cardiolipin as a new treatment for patients LCHAD and trifunctional protein deficiency. Her preliminary results were promising and presented at national and international meetings. After that, Dr. El-Gharbawy made the decision to relocate to pursue a career in clinical- translational research. This became possible again at Duke, where she moved, in order to follow her passion to advance patient care through translational research, following the mission of the Chen Pediatric Genetics and Genomics Research Center. She currently holds a FDA- IND on a PI initiated (industry-funded) clinical trial (pilot study) for using Triheptanoin (C7), an anaplerotic compound that promotes energy through the Krebs cycle in patients with glycogen storage disease type 1. She is a collaborator /Co-I on multiple clinical trials including GSDs, Fabry disease, organic acidurias, and Down syndrome. Her research involves analyzing metabolomics data from patients with different forms of GSD, to define signatures that correlate with metabolic control. Dr. El-Gharbawy is also involved in team science interdisciplinary research, she is currently collaborating with the Bissig lab, as Co-I on a new gene- and cell translational therapeutic approach for glutaric aciduria type 1. At Duke, she is interested and plans on developing algorithms that integrate clinical and -omic science in discovery of new therapies and biomarkers, with the aid of artificial intelligence.

Featured Collaborators

Andrew Landstrom

Andrew Landstrom, MD, PhD
Andrew Landstrom, MD, PhD is an assistant professor of pediatrics at Duke in the Division of Cardiology. He received his MD and PhD degrees from the Mayo Clinic College of Medicine where he studied the genetics behind sudden cardiac death-predisposing diseases. He completed residency in pediatrics, fellowship in pediatric cardiology, advanced fellowship in pediatric electrophysiology, and a post-doctoral research fellowship in molecular physiology and biophysics at Texas Children’s Hospital/Baylor College of Medicine. In his clinical practice, he sees children and their families who have concern for heritable arrhythmias, sudden cardiac arrest, or sudden unexplained death. He utilizes advanced cardiac testing, state-of-the-art clinical genetic testing, and works closely with the pediatric genetic specialists and the Duke Undiagnosed Diseases Network to identify children and family members who might be at risk for these diseases. He also runs a research lab exploring the genetic and molecular causes of sudden cardiac death-predisposing disease in children including heritable arrhythmic diseases like long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia as well as heritable diseases of the heart muscle like hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. 

Edward Smith

Edward Smith, MD
Edward C. Smith, MD is an associate professor of pediatrics and neurology. He attended the University of North Carolina at Chapel Hill and received his MD degree from the University of Mississippi Medical Center where he was also a resident in pediatrics. In 2004, he moved to Duke University where he completed his residency in pediatric neurology and a fellowship in neuromuscular medicine. He has served as a faculty member in the Department of Pediatrics, Division of Neurology since 2007.

Dr. Smith’s clinical and research interests focus on neuromuscular disorders. He is co-director of the Duke Children’s Neuromuscular Program which provides comprehensive, multidisciplinary care to pediatric patients with muscle and nerve disorders. In addition to his clinical duties, Dr. Smith has actively participated in numerous clinical trials relevant to neuromuscular disorders. During his tenure at Duke, Dr. Smith has collaborated frequently with colleagues in the Division of Medical Genetics on clinical and research projects.

Ashlee Stiles

Ashlee Stiles, PhD
Ashlee Stiles, PhD, FACMG is an assistant professor in the Division of Medical Genetics, co-director of the Duke University Health System’s Biochemical Genetics Laboratory and co-director of utilization management for the health system. She earned her bachelor’s degree in biology from Angelo State University and received her PhD in genetics and development from the University of Texas Southwestern Medical Center. She completed fellowship training in biochemical and molecular genetics from the University of California Los Angeles before joining the Department of Pediatrics at Duke University in 2016. Her current research interests are focused on better understanding the role of glucosylsphingosine (GlcSph) as a biomarker in Gaucher disease.

Additional Collaborators

Aravind Asokan, PhD
Instructor in the Department of Surgery (Surgical Sciences)
Affiliate of the Regeneration Next Initiative

Deeksha Bali, PhD
Professor of Pediatrics (Medical Genetics)

Mustafa Bashir, MD
Associate Professor of Radiology
Associate Professor of Medicine (Gastroenterology)
Member of the Duke Cancer Institute

Robert Benjamin, MD
Associate Professor of Pediatrics (Endocrinology)

Tracy Boggs, PT
Physical Therapist

Edward Bossen, MD
Professor EMeritus of Pathology

Anne Buckley, MD, PhD
Assistant Professor of Pathology

Laura Case, DPT
Assistant Professor of Orthopaedic Surgery

Lani Clinton, MD, PhD
Assistant Professor of Pathology

Gregory E. Crawford, PhD
Associate Professor of Pediatrics (Medical Genetics)
Associate Professor in Molecular Genetics and Microbiology

Mai Elmallah, MBBCh
Associate Professor of Pediatrics

Charlie Gersbach, PhD
Rooney Family Associate Professor of Biomedical Engineering
Associate Professorof Orthopaedic Surgery
Member of the Duke Cancer Institute
Affiliate of the Regeneration Next Initiative
Associate of the Duke Initiative for Science & Society

Harrison Jones, PhD
Associate Professor of Surgery (Head and Neck Surgery and Communication Sciences)

Robert Lark, MD
Assistant Professor of Orthopaedic Surgery

Jennifer Li, MD
Beverly C. Morgan, MD, Professor of Pediatric Cardiology in the School of Medicine
Professor of Pediatrics (Cardiology)
Chief, Division of Pediatric Cardiology
Professor of Medicine (Cardiology)
Member in the Duke Clinical Research Institute

Daniele Marin, MD
Associate Professor of Radiology
Member of the Duke Cancer Institute

Alisha Mavis, MD
Assistant Professor of Pediatrics (Gastroenterology, Hepatology and Nutrition)
Assistant Professor of Surgery (Abdominal Transplant Surgery)

Nancy McGreal, MD
Assistant Professor of Medicine (Gastroenterology)
Assistant Professor of Pediatrics (Gastroenterology, Hepatology and Nutrition)

Andrew Muir, MD, MHS
Professor of Medicine (Gastroenterology)
Chief, Division of Gastroenterology
Member in the Duke Clinical Research Institute

Andrew Peterson, MD
Professor of Surgery (Urology)

Grace Prakalapakorn, MD, MPH
Associate Professor of Ophthalmology
Associate Professor of Pediatrics

Alan Proia, MD, PhD
Professor of Pathology
Professor in Ophthalmology

James Provenzale, MD
Professor of Radiology
Faculty Network Member of the Duke Institute for Brain Sciences

Eileen Raynor, MD
Associate Professor of Surgery
Associate Professor of Pediatrics

Rebeccah Catherine Rehder, PhD
Assistant Professor of Pathology

Henry Rice, MD
Professor of Surgery (Pediatric General Surgery)
Professor of Pediatrics
Research Professor of Global Health

Rachel Richesson, PhD
Associate Professor in the School of Nursing
Associate Professor of Biostatistics and Bioinformatics

Allison Ross, MD
Professor of Anesthesiology
Chief, Division of Pediatric Anesthesiology
Professor of Pediatrics

Gail Spiridigliozzi, PhD
Associate Professor of Psychiatry and Behavioral Sciences
Associate Professor of Pediatrics

Cary Ward, MD
Associate Professor of Medicine
Member of the Duke Clinical Research Institute

Lisa Hobson-Webb, MD
Associate Professor of Neurology

Thomas Weber, MD
Associate Professor of Medicine (Endocrinology, Metabolism, and Nutrition)
Member of the Duke Cancer Institute

John Wiener, MD
Professor of Surgery (Urology)
Professor of Pediatrics

John Yi, PhD
Assistant Professor of Surgery
Member of the Duke Cancer Institute

Sarah Young, PhD
Associate Professor of Pediatrics (Medical Genetics)

Administrative Support

Scott Mofield
Senior Business Manager
Bio coming soon.

Beverly Foushee
Staff Assistant
Beverly serves as the Division Administration Staff Assistant. She has over 32 years of clerical experience at Duke, and provides the primary administrative support to Dr. Priya Kishnani and Division of Medical Genetics faculty. In addition, she provides administrative support for the Alice and YT Chen Center for Genetics and Genomics.